-
1
-
-
0028781727
-
Disorders of aldosterone biosynthesis and action
-
White PC: Disorders of aldosterone biosynthesis and action. N Engl J Med 1994, 331:250-258.
-
(1994)
N Engl J Med
, vol.331
, pp. 250-258
-
-
White, P.C.1
-
2
-
-
0028713457
-
Genetic diseases of steroid metabolism
-
White PC: Genetic diseases of steroid metabolism. Vitam Horm 1994, 49:131-195.
-
(1994)
Vitam Horm
, vol.49
, pp. 131-195
-
-
White, P.C.1
-
3
-
-
10244222257
-
Molecular biology and genetics of the 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family
-
Simard J, Durocher F, Mebarki F, Turgeon C, Sanchez R, Labrie Y, Couet J, Trudel C, Rheaume E, Morel Y: Molecular biology and genetics of the 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family. J Endocrinol 1996, 150(Suppl):S189-207. Current review of the molecular biology of 3β-hydroxysteroid dehydrogenase and its deficiency.
-
(1996)
J Endocrinol
, vol.150
, Issue.SUPPL.
-
-
Simard, J.1
Durocher, F.2
Mebarki, F.3
Turgeon, C.4
Sanchez, R.5
Labrie, Y.6
Couet, J.7
Trudel, C.8
Rheaume, E.9
Morel, Y.10
-
4
-
-
0028944669
-
Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis
-
Lin D, Sugawara T, Strauss JF, Clark BJ, Stocco DM, Saenger P, Rogol A, Miller WL: Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 1995, 267:1828-1831.
-
(1995)
Science
, vol.267
, pp. 1828-1831
-
-
Lin, D.1
Sugawara, T.2
Strauss, J.F.3
Clark, B.J.4
Stocco, D.M.5
Saenger, P.6
Rogol, A.7
Miller, W.L.8
-
5
-
-
0029855881
-
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium
-
Bose HS, Sugawara T, Strauss JF 3d, Miller WL: The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. N Engl J Med 1996, 335:1870-1878. Extends the findings of Lin et al. (Science 1995, 267:1828-1831) to 15 additional patients with lipoid adrenal hyperplasia who had mutations in the STAR protein. Some of the loss of steroidogenesis is due to damage of steroidogenic tissues by accumulated cholesterol esters.
-
(1996)
N Engl J Med
, vol.335
, pp. 1870-1878
-
-
Bose, H.S.1
Sugawara, T.2
Strauss III, J.F.3
Miller, W.L.4
-
6
-
-
0028944669
-
-
Bose HS, Sugawara T, Strauss JF 3d, Miller WL: The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. N Engl J Med 1996, 335:1870-1878. Extends the findings of Lin et al. (Science 1995, 267:1828-1831) to 15 additional patients with lipoid adrenal hyperplasia who had mutations in the STAR protein. Some of the loss of steroidogenesis is due to damage of steroidogenic tissues by accumulated cholesterol esters.
-
(1995)
Science
, vol.267
, pp. 1828-1831
-
-
-
7
-
-
0026641101
-
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC: Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992, 10:584-595.
-
(1992)
J Clin Invest
, vol.10
, pp. 584-595
-
-
Speiser, P.W.1
Dupont, J.2
Zhu, D.3
Serrat, J.4
Buegeleisen, M.5
Tusie-Luna, M.T.6
Lesser, M.7
New, M.I.8
White, P.C.9
-
8
-
-
0029074149
-
Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia
-
Kohn B, Day D, Alemzadeh R, Enerio D, Patel SV, Pelczar JV, Speiser PW: Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia. Am J Med Genet 1995, 57:450-454.
-
(1995)
Am J Med Genet
, vol.57
, pp. 450-454
-
-
Kohn, B.1
Day, D.2
Alemzadeh, R.3
Enerio, D.4
Patel, S.V.5
Pelczar, J.V.6
Speiser, P.W.7
-
9
-
-
0029795093
-
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21 hydroxylase deficiency
-
Witchel SF, Bhamidipati DK, Hoffman EP, Cohen JB: Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21 hydroxylase deficiency. J Clin Endocrinol Metab 1996, 81:4081-4088. Reports on asymptomatic persons with 21-hydroxylase deficiency who are apparently homozygous for a mutation in intron 2 of CYP21 that affects splicing. As discussed by Day et al. (Hum Mol Genet 1996, 5:2039-2048), these results may be typing artifacts.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4081-4088
-
-
Witchel, S.F.1
Bhamidipati, D.K.2
Hoffman, E.P.3
Cohen, J.B.4
-
10
-
-
0029806142
-
-
Witchel SF, Bhamidipati DK, Hoffman EP, Cohen JB: Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21 hydroxylase deficiency. J Clin Endocrinol Metab 1996, 81:4081-4088. Reports on asymptomatic persons with 21-hydroxylase deficiency who are apparently homozygous for a mutation in intron 2 of CYP21 that affects splicing. As discussed by Day et al. (Hum Mol Genet 1996, 5:2039-2048), these results may be typing artifacts.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 2039-2048
-
-
-
11
-
-
0029806142
-
Identification of non amplifying CYP21 genes when using PCR-based diagnosis of 21 hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees
-
Day DJ, Speiser PW, Schultz E, Bettendorf M, Fitness J, Barany F, White PC: Identification of non amplifying CYP21 genes when using PCR-based diagnosis of 21 hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Hum Mol Genet 1996, 5:2039-2048. Analysis of complete kindreds is used to demonstrate that asymptomatic persons who are typed as homozygous for the intron 2 splicing mutation are only heterozygous carriers of this mutation, but the mutant allele is preferentially amplified by PCR.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 2039-2048
-
-
Day, D.J.1
Speiser, P.W.2
Schultz, E.3
Bettendorf, M.4
Fitness, J.5
Barany, F.6
White, P.C.7
-
12
-
-
0028208951
-
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestations
-
Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H: Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestations. J Clin Endocrinol Metab 1994, 78:1145-1152.
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 1145-1152
-
-
Wedell, A.1
Thilen, A.2
Ritzen, E.M.3
Stengler, B.4
Luthman, H.5
-
13
-
-
0029095112
-
Detection of steroid 21-hydroxylase alleles using a multiplexed ligation detection reaction and gene-specific PCR
-
Day D, Speiser PW, White PC, Barany F: Detection of steroid 21-hydroxylase alleles using a multiplexed ligation detection reaction and gene-specific PCR. Genomics 1995, 29:152-162.
-
(1995)
Genomics
, vol.29
, pp. 152-162
-
-
Day, D.1
Speiser, P.W.2
White, P.C.3
Barany, F.4
-
14
-
-
0028167769
-
Disorders of steroid 11 beta hydroxylase isozymes
-
White PC, Curnow KM, Pascoe L: Disorders of steroid 11 beta hydroxylase isozymes. Endocr Rev 1994, 15:421-438.
-
(1994)
Endocr Rev
, vol.15
, pp. 421-438
-
-
White, P.C.1
Curnow, K.M.2
Pascoe, L.3
-
15
-
-
0026703632
-
The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone
-
Ulick S, Wang JZ, Morton DH: The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone. J Clin Endocrinol Metab 1992, 74:1415-1420.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 1415-1420
-
-
Ulick, S.1
Wang, J.Z.2
Morton, D.H.3
-
16
-
-
0027218610
-
Congenitally defective aldosterone biosynthesis in humans: Inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients
-
Mitsuuchi Y, Kawamoto T, Miyahara K, Ulick S, Morton DH, Naiki Y, Kuribayashi I, Toda K, Hara T, Orii T, et al.: Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. Biochem Biophys Res Commun 1993, 190:864-869.
-
(1993)
Biochem Biophys Res Commun
, vol.190
, pp. 864-869
-
-
Mitsuuchi, Y.1
Kawamoto, T.2
Miyahara, K.3
Ulick, S.4
Morton, D.H.5
Naiki, Y.6
Kuribayashi, I.7
Toda, K.8
Hara, T.9
Orii, T.10
-
17
-
-
0028813929
-
Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency
-
Geley S, Johrer K, Peter M, Denner K, Bernhardt R, Sippell WG, Kofler R: Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency. J Clin Endocrinol Metab 1995, 80:424-429.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 424-429
-
-
Geley, S.1
Johrer, K.2
Peter, M.3
Denner, K.4
Bernhardt, R.5
Sippell, W.G.6
Kofler, R.7
-
18
-
-
0026771282
-
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency
-
Pascoe L, Curnow KM, Slutsker L, Rosler A, White PC: Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc Natl Acad Sci U S A 1992, 89:4996-5000.
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 4996-5000
-
-
Pascoe, L.1
Curnow, K.M.2
Slutsker, L.3
Rosler, A.4
White, P.C.5
-
19
-
-
0028826191
-
Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency
-
Zhang G, Rodriguez H, Fardella CE, Harris DA, Miller WL: Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency. Am J Hum Genet 1995, 57:1037-1043.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1037-1043
-
-
Zhang, G.1
Rodriguez, H.2
Fardella, C.E.3
Harris, D.A.4
Miller, W.L.5
-
20
-
-
0028558750
-
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
-
Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER: An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994, 372:635-641.
-
(1994)
Nature
, vol.372
, pp. 635-641
-
-
Zanaria, E.1
Muscatelli, F.2
Bardoni, B.3
Strom, T.M.4
Guioli, S.5
Guo, W.6
Lalli, E.7
Moser, C.8
Walker, A.P.9
McCabe, E.R.10
-
21
-
-
0028303959
-
A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
-
Luo X, Ikeda Y, Parker KL: A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 1994, 77:481-490.
-
(1994)
Cell
, vol.77
, pp. 481-490
-
-
Luo, X.1
Ikeda, Y.2
Parker, K.L.3
-
22
-
-
0026580019
-
A chimaeric 11 beta hydroxylase/aldosterone synthase gene causes glucocorticoid remediable aldosteronism and human hypertension
-
Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM: A chimaeric 11 beta hydroxylase/aldosterone synthase gene causes glucocorticoid remediable aldosteronism and human hypertension. Nature 1992, 355:262-265.
-
(1992)
Nature
, vol.355
, pp. 262-265
-
-
Lifton, R.P.1
Dluhy, R.G.2
Powers, M.3
Rich, G.M.4
Cook, S.5
Ulick, S.6
Lalouel, J.M.7
-
23
-
-
0026701168
-
Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2
-
Pascoe L, Curnow KM, Slutsker L, Connell JM, Speiser PW, New MI, White PC: Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2. Proc Natl Acad Sci U S A 1992, 89:8327-8331.
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 8327-8331
-
-
Pascoe, L.1
Curnow, K.M.2
Slutsker, L.3
Connell, J.M.4
Speiser, P.W.5
New, M.I.6
White, P.C.7
-
24
-
-
0028883357
-
Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree
-
Pascoe L, Jeunemaitre X, Lebrethon MC, Curnow KM, Gomez-Sanchez CE, Gasc JM, Saez JM, Corvol P: Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree. J Clin Invest 1995, 96:2236-2246.
-
(1995)
J Clin Invest
, vol.96
, pp. 2236-2246
-
-
Pascoe, L.1
Jeunemaitre, X.2
Lebrethon, M.C.3
Curnow, K.M.4
Gomez-Sanchez, C.E.5
Gasc, J.M.6
Saez, J.M.7
Corvol, P.8
-
25
-
-
0031025104
-
The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme
-
Curnow KM, Mulatero P, Emeric-Blanchouin N, Aupetit-Faisant B, Corvol P, Pascoe L: The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme. Nat Struct Biol 1997, 4:32-35. Although CYP11B1 and CYP11B2 are only 93% identical in amino acid sequence, changing the two listed amino acid residues in CYP11B1 to the sequence of CYP11B2 is sufficient to confer 18-hydroxylase and 18-oxidase activity on CYP11B1.
-
(1997)
Nat Struct Biol
, vol.4
, pp. 32-35
-
-
Curnow, K.M.1
Mulatero, P.2
Emeric-Blanchouin, N.3
Aupetit-Faisant, B.4
Corvol, P.5
Pascoe, L.6
-
26
-
-
0029870185
-
Engineering a mineralocorticoid to a glucocorticoid synthesizing cytochrome P450
-
Bottner B, Schrauber H, Bernhardt R: Engineering a mineralocorticoid to a glucocorticoid synthesizing cytochrome P450. J Biol Chem 1996, 271:8028-8033. This paper reports that converting Ala320 in CYP11B2 to Val destroys 18-oxidase activity and increases 11β-hydroxylase activity.
-
(1996)
J Biol Chem
, vol.271
, pp. 8028-8033
-
-
Bottner, B.1
Schrauber, H.2
Bernhardt, R.3
-
27
-
-
0028900410
-
Glucocorticoid-remediable aldosteronism (GRA): Diagnosis, variability of phenotype and regulation of potassium homeostasis
-
Dluhy RG, Lifton RP: Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. Steroids 1995, 60:48-51.
-
(1995)
Steroids
, vol.60
, pp. 48-51
-
-
Dluhy, R.G.1
Lifton, R.P.2
-
28
-
-
0029042995
-
Glucocorticoid-suppressible hyperaldosteronism: Effects of crossover site and parental origin of chimaeric gene on phenotypic expression
-
Jamieson A, Slutsker L, Inglis GC, Fraser R, White PC, Connell JM: Glucocorticoid-suppressible hyperaldosteronism: effects of crossover site and parental origin of chimaeric gene on phenotypic expression. Clin Sci 1995, 88:563-570.
-
(1995)
Clin Sci
, vol.88
, pp. 563-570
-
-
Jamieson, A.1
Slutsker, L.2
Inglis, G.C.3
Fraser, R.4
White, P.C.5
Connell, J.M.6
-
30
-
-
0029983142
-
Conn syndrome in a child, caused by adrenal adenoma
-
Abasiyanik A, Oran B, Kaymakci A, Yasar C, Caliskan U, Erkul I: Conn syndrome in a child, caused by adrenal adenoma. J Pediatr Surg 1996, 31:430-432. Aldosterone-producing adenomas are a rare cause of hyperaldosteronism in children.
-
(1996)
J Pediatr Surg
, vol.31
, pp. 430-432
-
-
Abasiyanik, A.1
Oran, B.2
Kaymakci, A.3
Yasar, C.4
Caliskan, U.5
Erkul, I.6
-
31
-
-
0026554478
-
Familial hyperaldosteronism type II: Five families with a new variety of primary aldosteronism
-
Stowasser M, Gordon RD, Tunny TJ, Klemm SA, Finn WL, Krek AL: Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. Clin Exp Pharmacol Physiol 1992, 19:319-322.
-
(1992)
Clin Exp Pharmacol Physiol
, vol.19
, pp. 319-322
-
-
Stowasser, M.1
Gordon, R.D.2
Tunny, T.J.3
Klemm, S.A.4
Finn, W.L.5
Krek, A.L.6
-
32
-
-
0029801755
-
Aldosterone producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications
-
Carroll J, Dluhy R, Fallo F, Pistorello M, Bradwin G, Gomez-Sanchez CE, Mortensen R: Aldosterone producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. J Clin Endocrinol Metab 1996, 81:4310-4312. Whereas Pascoe et al. (J Clin Invest 1995, 96:2236-2246) report an adrenal adenoma in a patient with glucocorticoid-suppressible hyperaldosteronism, the converse is not usually true: gene arrangements of CYP11B1 and B2 were not detected in unselected aldosterone-producing adenomas.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4310-4312
-
-
Carroll, J.1
Dluhy, R.2
Fallo, F.3
Pistorello, M.4
Bradwin, G.5
Gomez-Sanchez, C.E.6
Mortensen, R.7
-
33
-
-
0028883357
-
-
Carroll J, Dluhy R, Fallo F, Pistorello M, Bradwin G, Gomez-Sanchez CE, Mortensen R: Aldosterone producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. J Clin Endocrinol Metab 1996, 81:4310-4312. Whereas Pascoe et al. (J Clin Invest 1995, 96:2236-2246) report an adrenal adenoma in a patient with glucocorticoid-suppressible hyperaldosteronism, the converse is not usually true: gene arrangements of CYP11B1 and B2 were not detected in unselected aldosterone-producing adenomas.
-
(1995)
J Clin Invest
, vol.96
, pp. 2236-2246
-
-
-
34
-
-
0031046241
-
11β-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess
-
White PC, Mune T, Agarwal AK: 11β-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev 1997, 18:135-156. Recent review of this subject area.
-
(1997)
Endocr Rev
, vol.18
, pp. 135-156
-
-
White, P.C.1
Mune, T.2
Agarwal, A.K.3
-
35
-
-
0029847770
-
Localization of 11 beta-hydroxysteroid dehydrogenase type II in human epithelial tissues
-
Smith RE, MaGuire JA, Stein-Oakley AN, Sasano H, Takahashi K, Fukushima K, Krozowski ZS: Localization of 11 beta-hydroxysteroid dehydrogenase type II in human epithelial tissues. J Clin Endocrinol Metab 1996, 81:3244-3248. The type 2 or kidney isozyme is present in many mineralocorticoid-responsive epithelia, such as sweat and salivary glands.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 3244-3248
-
-
Smith, R.E.1
MaGuire, J.A.2
Stein-Oakley, A.N.3
Sasano, H.4
Takahashi, K.5
Fukushima, K.6
Krozowski, Z.S.7
-
36
-
-
0029160972
-
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase
-
Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC: Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. Nat Genet 1995, 10:394-399.
-
(1995)
Nat Genet
, vol.10
, pp. 394-399
-
-
Mune, T.1
Rogerson, F.M.2
Nikkila, H.3
Agarwal, A.K.4
White, P.C.5
-
37
-
-
0029060080
-
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess
-
Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Shackleton CH, Funder JW, New MI: A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1995, 80:2263-2266.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 2263-2266
-
-
Wilson, R.C.1
Krozowski, Z.S.2
Li, K.3
Obeyesekere, V.R.4
Razzaghy-Azar, M.5
Harbison, M.D.6
Wei, J.Q.7
Shackleton, C.H.8
Funder, J.W.9
New, M.I.10
-
38
-
-
0029934419
-
Apparent mineralocorticoid excess: Genotype is correlated with biochemical phenotype
-
Mune T, White PC: Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype. Hypertension 1996, 27:1193-1199. Biochemical phenotype in patients with AME, as measured by a precursor:product ratio, was correlated with the degree of enzymatic compromise conferred by the mutations in each patient.
-
(1996)
Hypertension
, vol.27
, pp. 1193-1199
-
-
Mune, T.1
White, P.C.2
-
39
-
-
0029954797
-
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess
-
Ferrari P, Obeyesekere VR, Li K, Wilson RC, New MI, Funder JW, Krozowski ZS: Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. Mol Cell Endocrinol 1996, 119:21-24. Confirms the conclusions of Mune et al. (Nat Genet 1995, 10:394-399).
-
(1996)
Mol Cell Endocrinol
, vol.119
, pp. 21-24
-
-
Ferrari, P.1
Obeyesekere, V.R.2
Li, K.3
Wilson, R.C.4
New, M.I.5
Funder, J.W.6
Krozowski, Z.S.7
-
40
-
-
0029160972
-
-
Ferrari P, Obeyesekere VR, Li K, Wilson RC, New MI, Funder JW, Krozowski ZS: Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. Mol Cell Endocrinol 1996, 119:21-24. Confirms the conclusions of Mune et al. (Nat Genet 1995, 10:394-399).
-
(1995)
Nat Genet
, vol.10
, pp. 394-399
-
-
-
41
-
-
0028154726
-
Brief report: Liddle's syndrome revisited - A disorder of sodium reabsorption in the distal tubule
-
Botero-Velez M, Curtis JJ, Warnock DG: Brief report: Liddle's syndrome revisited - a disorder of sodium reabsorption in the distal tubule. N Engl J Med 1994, 330:178-181.
-
(1994)
N Engl J Med
, vol.330
, pp. 178-181
-
-
Botero-Velez, M.1
Curtis, J.J.2
Warnock, D.G.3
-
42
-
-
0027946089
-
Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel
-
Shimkets RA, Warnock DG, Bositis CM, Nelson Williams C, Hansson JH, Schambelan M, Gill JR Jr, Ulick S, Milora RV, Findling JW, et al.: Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell 1994, 79:407-414.
-
(1994)
Cell
, vol.79
, pp. 407-414
-
-
Shimkets, R.A.1
Warnock, D.G.2
Bositis, C.M.3
Nelson Williams, C.4
Hansson, J.H.5
Schambelan, M.6
Gill Jr., J.R.7
Ulick, S.8
Milora, R.V.9
Findling, J.W.10
-
43
-
-
0029046975
-
A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system
-
Schild L, Canessa CM, Shimkets RA, Gautschi I, Lifton RP, Rossier BC: A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system. Proc Natl Acad Sci U S A 1995, 92:5699-5703.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 5699-5703
-
-
Schild, L.1
Canessa, C.M.2
Shimkets, R.A.3
Gautschi, I.4
Lifton, R.P.5
Rossier, B.C.6
-
44
-
-
0029918734
-
Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene
-
Tamura H, Schild L, Enomoto N, Matsui N, Marumo F, Rossier BC: Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. J Clin Invest 1996, 97:1780-1784. Missense mutations in a proline-rich region near the carboxyl terminus of the β subunit can constitutively activate the subunit.
-
(1996)
J Clin Invest
, vol.97
, pp. 1780-1784
-
-
Tamura, H.1
Schild, L.2
Enomoto, N.3
Matsui, N.4
Marumo, F.5
Rossier, B.C.6
-
45
-
-
0029092801
-
Hypertension caused by a truncated epithelial sodium channel gamma subunit: Genetic heterogeneity of Liddle syndrome
-
Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP: Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet 1995, 11:76-82.
-
(1995)
Nat Genet
, vol.11
, pp. 76-82
-
-
Hansson, J.H.1
Nelson-Williams, C.2
Suzuki, H.3
Schild, L.4
Shimkets, R.5
Lu, Y.6
Canessa, C.7
Iwasaki, T.8
Rossier, B.9
Lifton, R.P.10
-
46
-
-
0028931143
-
Familial pseudohypoaldosteronism: A review on the heterogeneity of the syndrome
-
Kuhnle U, Hinkel GK, Akkurt HI, Krozowski Z: Familial pseudohypoaldosteronism: a review on the heterogeneity of the syndrome. Steroids 1995, 60:157-160.
-
(1995)
Steroids
, vol.60
, pp. 157-160
-
-
Kuhnle, U.1
Hinkel, G.K.2
Akkurt, H.I.3
Krozowski, Z.4
-
47
-
-
84995868875
-
Pseudohypoaldosteronism: Molecular characterization of the mineralocorticoid receptor
-
Komesaroff PA, Verity K, Fuller PJ: Pseudohypoaldosteronism: molecular characterization of the mineralocorticoid receptor. J Clin Endocrinol Metab 1994, 79:27-31.
-
(1994)
J Clin Endocrinol Metab
, vol.79
, pp. 27-31
-
-
Komesaroff, P.A.1
Verity, K.2
Fuller, P.J.3
-
48
-
-
84995865420
-
No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism
-
Zennaro MC, Borensztein P, Jeunemaitre X, Armanini D, Soubrier F: No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism. J Clin Endocrinol Metab 1994, 79:32-38.
-
(1994)
J Clin Endocrinol Metab
, vol.79
, pp. 32-38
-
-
Zennaro, M.C.1
Borensztein, P.2
Jeunemaitre, X.3
Armanini, D.4
Soubrier, F.5
-
49
-
-
0030047193
-
Localization of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping
-
Strautnieks SS, Thompson RJ, Hanukoglu A, Dillon MJ, Hanukoglu I, Kuhnle U, Seckl JR, Gardiner SM, Chung E: Localization of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. Hum Mol Genet 1996, 5:293-299. These chromosomal regions contain genes encoding the α and β subunits of the sodium channel.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 293-299
-
-
Strautnieks, S.S.1
Thompson, R.J.2
Hanukoglu, A.3
Dillon, M.J.4
Hanukoglu, I.5
Kuhnle, U.6
Seckl, J.R.7
Gardiner, S.M.8
Chung, E.9
-
50
-
-
13344295074
-
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
-
Chang SS, Grunder S, Hanukoglu A, Rosler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, et al.: Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996, 12:248-253. An elegant study demonstrating that inactivating mutations in the α and β subunits of the sodium channel cause pseudohypoaldosteronism.
-
(1996)
Nat Genet
, vol.12
, pp. 248-253
-
-
Chang, S.S.1
Grunder, S.2
Hanukoglu, A.3
Rosler, A.4
Mathew, P.M.5
Hanukoglu, I.6
Schild, L.7
Lu, Y.8
Shimkets, R.A.9
Nelson-Williams, C.10
-
51
-
-
9844262149
-
Steroid 11β-hydroxylase isozymes
-
White PC: Steroid 11β-hydroxylase isozymes. Endocr Rev 1994, 15:423.
-
(1994)
Endocr Rev
, vol.15
, pp. 423
-
-
White, P.C.1
|